A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514221



Internal ID15812638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67927799..67967407hg38UCSC Ensembl
Innerchr4:68793517..68833125hg19UCSC Ensembl
Innerchr4:68476112..68515720hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3839609
hg1939609
hg1839609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2906585
SamplesNA18517
Known GenesTMPRSS11A
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514221
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer